H. Toriello

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Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.

P. Byers, Y. Imamura, D. Greenspan, 2002, American journal of human genetics.

Intellectual disability and genetic influences

H. Toriello, 2008 .

Premature Ageing Syndromes

H. Toriello, 2019, Harper's Textbook of Pediatric Dermatology.

Premature Ageing Syndromes

H. Toriello, Caleb P. Bupp, 2019, Harper's Textbook of Pediatric Dermatology.

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

E. Farrow, C. Saunders, I. Thiffault, 2016, American journal of medical genetics. Part A.

Gene doping: the hype and the harm.

H. Toriello, T. McKanna, Trudy McKanna, 2010, Pediatric clinics of North America.

Statement on guidance for genetic counseling in advanced paternal age

H. Toriello, J. Meck, 2008, Genetics in Medicine.

Policy statement on folic acid and neural tube defects

H. Toriello, 2011, Genetics in Medicine.

Update on the Toriello–Carey syndrome

M. Bamshad, H. Toriello, C. Colley, 2016, American journal of medical genetics. Part A.

A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

P. Byers, T. Glover, D. Greenspan, 1996, Nature Genetics.

Cilia and the ciliopathies: An introduction

M. Parisi, H. Toriello, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Toriello–Carey syndrome: Delineation and review

Marc S. Williams, E. Zackai, W. Newman, 2003, American journal of medical genetics. Part A.

Genetic Evaluation in Developmental Disabilities

H. Toriello, 2011 .

Role of the dysmorphologic evaluation in the child with developmental delay.

H. Toriello, 2008, Pediatric clinics of North America.

Response to Rosenberg et al.

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.

Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

E. Hatchwell, D. Tegay, H. Toriello, 2009, Clinical genetics.

Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome?

H. Toriello, W. D. Moore, R. Graff, 1988, American journal of medical genetics.

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

S. Pulst, J. Carey, G. Mirzaa, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.

A. Popejoy, A. Philp, F. Quintero-Rivera, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Prenatal diagnosis and screening. D.J.H. Brock, C.H. Rodeck, and M.A. Ferguson-Smith, Eds. Churchill Livingstone, Inc., London, 1992. $169.95

H. Toriello, 1995 .

Are the oral‐facial‐digital syndromes ciliopathies?

H. Toriello, 2009, American journal of medical genetics. Part A.

Renal tubular dysgenesis: delayed onset of oligohydramnios.

J. Opitz, H. Toriello, A. Swinford, 1989, American journal of medical genetics.

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling

D. L. Doyle, K. Ormond, E. Petty, 2016, Journal of Genetic Counseling.

Literature review: Genetic conditions or anomalies in artworks

H. Toriello, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

Preserved neurobehavioral abilities in Lujan-Fryns syndrome.

H. Toriello, J. Donders, S. van Doornik, 2002, American journal of medical genetics.

Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.

H. Toriello, D. Looyenga, L. Radecki, 1986, American journal of medical genetics. Supplement.

Neurodevelopmental Disorders in Common Syndromes

H. Toriello, 2011 .

Pulmonary and diaphragmatic agenesis: report of affected sibs.

H. Toriello, A. Jones, J. Higgins, 1985, American journal of medical genetics.

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

R. Weksberg, C. Moore, C. Stevens, 1997, American journal of medical genetics.

Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy).

M. Hayden, K. Holbrook, H. Toriello, 1987, The Journal of investigative dermatology.

Emotional intelligence in undergraduate medical students: a scoping review

B. Mavis, J. M. M. van de Ridder, H. Toriello, 2021, Advances in Health Sciences Education.

Thrombocytopenia-absent radius syndrome

H. Toriello, P. Pharoah, C. Stevenson, 2003, Archives of disease in childhood.

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

R. Stevenson, C. Schwartz, J. Ramser, 2005, Human molecular genetics.

Holoprosencephaly in infants of diabetic mothers.

Golder N Wilson, R. Schmickel, H. Toriello, 1983, The Journal of pediatrics.

Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism.

A. Lin, H. Toriello, G. Bernert, 1997, American journal of medical genetics.

Accurately renaming macrocephaly‐cutis marmorata telangiectatica congenita (M‐CMTC) as macrocephaly‐capillary malformation (M‐CM)

J. Mulliken, H. Toriello, 2007, American journal of medical genetics. Part A.

Approach to the genetic evaluation of the child with autism.

H. Toriello, 2012, Pediatric clinics of North America.

Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations

K. Dykema, B. Williams, D. Scholten, 2015, American journal of medical genetics. Part A.

Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys.

H. Toriello, Y. Lacassie, J. Higgins, 1993, American journal of medical genetics.

Prenatal findings in chondrodysplasia punctata, tibia—metacarpal type

H. Toriello, R. Jelsema, L. Zuidema, 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Elements of morphology: Standard terminology for the hands and feet

L. Biesecker, I. Temple, H. Toriello, 2009, American journal of medical genetics. Part A.

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

N. Brunetti‐Pierri, J. Mulliken, R. Pauli, 2013, American journal of medical genetics. Part A.

Pigmentary anomalies and hearing loss.

H. Toriello, 2011, Advances in oto-rhino-laryngology.

Six patients with oral-facial-digital syndrome IV: the case for heterogeneity.

H. Hoyme, J. Carey, H. Toriello, 1997, American journal of medical genetics.

Is there a Baller-Gerold syndrome?

H. Toriello, M. Cohen, 1996, American journal of medical genetics.

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

H. Toriello, J. Higgins, S. Bauserman, 1985, American journal of medical genetics.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Stephen R. Williams, V. D. Der Kaloustian, H. Toriello, 2010, American journal of human genetics.

What Is New in Genetics and Genomics

H. Toriello, 2016 .

X-linked midline defects.

H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: results of a United States study.

H. Toriello, J. Higgins, H. V. Toriello, 1983, American journal of medical genetics.

Sibs with the polyasplenia developmental field defect.

H. Toriello, J. Higgins, R. Hofman, 1986, American journal of medical genetics. Supplement.

Familial occurrence of a developmental defect of the medial nasal processes.

J. Opitz, H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Restrictive dermopathy and report of another case.

H. Toriello, 1986, American journal of medical genetics.

Isolated diaphragmatic defect in three sibs.

H. Toriello, J. Higgins, S. Kapur, 1986, American journal of medical genetics. Supplement.

Autism and Genetics

H. Toriello, 2016 .

Oral–facial–digital syndromes: Review and diagnostic guidelines

G. Neri, B. Franco, H. Toriello, 2007, American journal of medical genetics. Part A.

Chondrodysplasia punctata and maternal systemic lupus erythematosus.

H. Toriello, H. V. Toriello, 1998, Journal of medical genetics.

Teaching perspectives on the communication of difficult news of genetic conditions to medical students

Ariel J VanLeuven, H. Toriello, Andrew K. Sobering, 2022, American journal of medical genetics. Part A.

Charge association

H. Toriello, 1999, Ear, nose, & throat journal.

Congenital pulmonary lymphangiectasia and other anomalies in a child: provisionally unique syndrome?

H. Toriello, G. Kohut, M. Gilewski, 1996, American journal of medical genetics.

Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective.

H. Toriello, S. Bauserman, Bauserman Sc, 1985, American journal of medical genetics.

A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

H. Hakonarson, H. Toriello, R. Walker, 2022, Molecular genetics & genomic medicine.

Toriello‐Carey syndrome phenotype and chromosome anomalies

E. Hatchwell, H. Toriello, 2008, American journal of medical genetics. Part A.

Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: a new autosomal recessive syndrome?

J. Carey, H. Toriello, 1988, American journal of medical genetics.

Evidence‐based medicine and practice guidelines: Application to genetics

H. Toriello, P. Goldenberg, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

H. Rehm, K. Arnos, B. Korf, 2003, Genetics in Medicine.

Pancreatic insufficiency in Toriello–Carey syndrome: Report of a second patient

H. Toriello, K. El-Chammas, W. Rhead, 2012, American journal of medical genetics. Part A.

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

J. Ragoussis, S. Knight, H. Brunner, 2013, Human molecular genetics.

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

T. Vulliamy, H. Tamary, H. Toriello, 2015, Blood.

Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis

H. Toriello, J. Higgins, R. Mann, 1995, Clinical dysmorphology.

CHARGE association.

H. Toriello, 1995, Journal of the American Academy of Audiology.

Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.

R. Winter, A. Verloes, M. Dixon, 1997, Human molecular genetics.

Possible causal heterogeneity in spina bifida cystica.

H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Indications for genetic referral: a guide for healthcare providers

D. Driscoll, R. Bennett, B. Pletcher, 2007, Genetics in Medicine.

Oral-facial-digital syndromes, 1992.

H. Toriello, 1993, Clinical dysmorphology.

Heterogeneity and variability in the oral-facial-digital syndromes.

H. Toriello, 1988, American journal of medical genetics. Supplement.

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

H. Toriello, E. Lemire, 2002, Clinical dysmorphology.

Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.

H. Toriello, J. Higgins, T. Miller, 1993, American journal of medical genetics.

Non-ossifying fibromas and giant cell reparative granulomas in a child with ocular-ectodermal syndrome.

H. Toriello, G. Kohut, D. Freyer, 1999, Clinical dysmorphology.

Mosaic pentasomy X/tetrasomy X syndrome and premature ovarian failure.

Lora Kleis, H. Toriello, A. Cemeroglu, 2011, Indian pediatrics.

Autosomal-recessive aplasia cutis congenita--report of two affected sibs.

H. Toriello, J. Higgins, D. F. Waterman, 1983 .

Invited editorial comment on "restrictive dermopathy" and report of another case.

H. Toriello, 1988, Birth defects original article series.

Genotype/phenotype correlations in two patients with 12q subtelomere deletions

Z. Nawaz, M. Adam, H. Toriello, 2007, American journal of medical genetics. Part A.

Re-evaluation of CHANDS.

H. Toriello, F. Baughman, D. F. Waterman, 1979, Journal of medical genetics.

Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDS.

H. Toriello, 1994, American journal of medical genetics.

Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder.

H. Toriello, D. Bertola, M. Netzloff, 1997, American journal of medical genetics.

Report of a case and further delineation of the SHORT syndrome.

S. Wakefield, H. Toriello, J. Higgins, 1985, American journal of medical genetics.

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy

E. Hoffman, C. Angelini, M. Cadaldini, 1995, Neurology.

Report of a third kindred with X-linked anencephaly/spina bifida.

H. Toriello, 1984, American journal of medical genetics.

Brief communication: possible X-linked anencephaly and spina bifida--report of a kindred.

S. Warren, H. Toriello, J. Lindstrom, 1980, American journal of medical genetics.

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.

H. Toriello, S. Kapur, 1991, American journal of medical genetics.

Training the next generation of genomic medicine providers: trends in medical education and national assessment

C. Powell, G. Feldman, D. Waggoner, 2020, Genetics in Medicine.

X-linked syndrome of branchial arch and other defects.

H. Toriello, W. D. Moore, J. Higgins, 1985, American journal of medical genetics.

Human longevity; By David W.E. Smith. Oxford University Press, 1994, Oxford, United Kingdom $35.00

H. Toriello, 1995 .

Focused Revision: Policy statement on folic acid and neural tube defects

H. Toriello, M. Mori, Priya Prasad, 2021, Genetics in Medicine.

Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.

S. Hovius, M. Breuning, H. Toriello, 2000, American journal of medical genetics.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

C. Curry, H. Toriello, S. Hickey, 2013, Genetics in Medicine.

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1

P. Hedera, E. Petty, H. Toriello, 2002, Journal of medical genetics.

Novel autosomal dominant mandibulofacial dysostosis with ptosis : clinical description and exclusion of TCOF 1 P Hedera

P. Hedera, E. Petty, H. Toriello, 2002 .

Emotional intelligence in undergraduate medical students: a scoping review

B. Mavis, H. Toriello, C. Arvidson, 2021, Advances in Health Sciences Education.

The arhinencephaly field defect.

H. Toriello, 1986, American journal of medical genetics. Supplement.

Folic acid and neural tube defects

H. Toriello, 2005, Genetics in Medicine.

Teebi hypertelorism syndrome: report of a third family

H. Toriello, K. Delp, 1994, Clinical dysmorphology.

Wiedemann-Rautenstrauch syndrome.

H. Toriello, H V Toriello, 1990, Journal of medical genetics.

Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).

H. Toriello, E. Beaumont, J. Sharda, 1985, American journal of medical genetics.

Randomized trial finds that prostate cancer genetic risk score feedback targets prostate‐specific antigen screening among at‐risk men

Jianfeng Xu, R. Kahnoski, F. Hsu, 2016, Cancer.

A boy with choanal atresia and cardiac defect: Burn-McKeown syndrome?

H. Toriello, J. Higgins, 1999, Clinical dysmorphology.

An apparently new syndrome of microcephalic primordial dwarfism and cataracts.

H. Toriello, W. Horton, J. Higgins, 1986, American journal of medical genetics.

Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq

E. Farrow, I. Thiffault, B. Koseva, 2023, American journal of medical genetics. Part A.

American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing

H. Kearney, C. Rehder, K. David, 2013, Genetics in Medicine.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

I. Krantz, E. Roeder, J. Graham, 2023, American journal of medical genetics. Part A.

Evidence that macrocephaly and obesity may be dependent traits

V. Valdmanis, H. Toriello, M. Mathew, 2007, American journal of medical genetics. Part A.

Congenital pulmonary lymphangiectasia and other anomalies in a child: provisionally unique syndrome?

H. Toriello, Gloria Kohut, Marie K. Gilewski, 1996, American journal of medical genetics.

Treacher Collins Syndrome

H. Toriello, 1999, Ear, nose, & throat journal.

Verification of the fetal valproate syndrome phenotype.

S. Clarren, J. Atkin, L. Elsas, 1988, American journal of medical genetics.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.